Name

IFT81 Gene

intraflagellar transport 81

The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

IFT88 Gene

intraflagellar transport 88

This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]

VTI1BP1 Gene

vesicle transport through interaction with t-SNAREs 1B pseudogene 1

VTI1BP2 Gene

vesicle transport through interaction with t-SNAREs 1B pseudogene 2

IFT43 Gene

intraflagellar transport 43

This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

IFT46 Gene

intraflagellar transport 46

Predicted to be involved in cilium assembly; intraciliary transport; and protein stabilization. Predicted to act upstream of or within smoothened signaling pathway. Located in cytoplasm. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Mar 2025]

NUTF2P8 Gene

nuclear transport factor 2 pseudogene 8

NUTF2P2 Gene

nuclear transport factor 2 pseudogene 2

NUTF2P6 Gene

nuclear transport factor 2 pseudogene 6

NUTF2P7 Gene

nuclear transport factor 2 pseudogene 7

NUTF2P4 Gene

nuclear transport factor 2 pseudogene 4

AABT Gene

Beta-amino acids, renal transport of

VTI1A Gene

vesicle transport through interaction with t-SNAREs 1A

The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

VTI1B Gene

vesicle transport through interaction with t-SNAREs 1B

Enables SNARE binding activity and chloride channel inhibitor activity. Involved in regulation of protein localization to plasma membrane. Located in several cellular components, including endosome membrane; lysosomal membrane; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

TMED7 Gene

transmembrane emp24 protein transport domain containing 7

Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

TMED6 Gene

transmembrane emp24 protein transport domain containing 6

Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including COPII-coated ER to Golgi transport vesicle; Golgi apparatus; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

TMED5 Gene

transmembrane emp24 protein transport domain containing 5

Involved in Golgi ribbon formation. Located in cis-Golgi network; endoplasmic reticulum exit site; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

TMED4 Gene

transmembrane emp24 protein transport domain containing 4

Involved in positive regulation of canonical NF-kappaB signal transduction. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in several cellular components, including COPII-coated ER to Golgi transport vesicle; Golgi apparatus; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

TMED3 Gene

transmembrane emp24 protein transport domain containing 3

Predicted to be involved in Golgi organization; endoplasmic reticulum to Golgi vesicle-mediated transport; and intracellular protein transport. Located in Golgi apparatus; endoplasmic reticulum; and endoplasmic reticulum-Golgi intermediate compartment. [provided by Alliance of Genome Resources, Mar 2025]

TMED1 Gene

transmembrane emp24 protein transport domain containing 1

This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

TMED9 Gene

transmembrane emp24 protein transport domain containing 9

This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]

TMED8 Gene

transmembrane emp24 protein transport domain containing 8

CHR Gene

chromate resistance; sulfate transport

LOC100913082 Gene

intraflagellar transport 20 homolog (Chlamydomonas) pseudogene

LOC102724738 Gene

tricarboxylate transport protein, mitochondrial pseudogene

LOC100129646 Gene

intraflagellar transport 57 homolog (Chlamydomonas) pseudogene

GOLT1B Gene

golgi transport 1B

Involved in positive regulation of canonical NF-kappaB signal transduction. Located in endoplasmic reticulum. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

GOLT1A Gene

golgi transport 1A

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in Golgi apparatus subcompartment; endoplasmic reticulum; and nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

CHAC2 Gene

ChaC, cation transport regulator homolog 2 (E. coli)

The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016]

USO1 Gene

USO1 vesicle transport factor

The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

LOC100422032 Gene

intraflagellar transport 80 homolog (Chlamydomonas) pseudogene

IFT52 Gene

intraflagellar transport 52

This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]

IFT57 Gene

intraflagellar transport 57

Predicted to enable DNA binding activity. Acts upstream of or within apoptotic process; positive regulation of cysteine-type endopeptidase activity; and regulation of apoptotic process. Located in ciliary base and photoreceptor connecting cilium. Part of intraciliary transport particle B. Implicated in orofaciodigital syndrome XVIII. [provided by Alliance of Genome Resources, Mar 2025]

FXYD6 Gene

FXYD domain containing ion transport regulator 6

This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]

FXYD7 Gene

FXYD domain containing ion transport regulator 7

This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]

FXYD4 Gene

FXYD domain containing ion transport regulator 4

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]

FXYD5 Gene

FXYD domain containing ion transport regulator 5

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]

FXYD2 Gene

FXYD domain containing ion transport regulator 2

This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011]

FXYD3 Gene

FXYD domain containing ion transport regulator 3

This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene encodes a cell membrane protein that may regulate the function of ion-pumps and ion-channels. This gene may also play a role in tumor progression. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]

FXYD1 Gene

FXYD domain containing ion transport regulator 1

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5' UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008]

ANKH Gene

ANKH inorganic pyrophosphate transport regulator

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

IFT122 Gene

intraflagellar transport 122

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

IFT80 Gene

intraflagellar transport 80

The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

NXT2 Gene

nuclear transport factor 2-like export factor 2

The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]

NXT1 Gene

nuclear transport factor 2-like export factor 1

The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]

MITD1 Gene

MIT, microtubule interacting and transport, domain containing 1

Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

IFT172 Gene

intraflagellar transport 172

This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]

LOC100422053 Gene

intraflagellar transport 57 homolog (Chlamydomonas) pseudogene

VTI1BP4 Gene

vesicle transport through interaction with t-SNAREs 1B pseudogene 4

VTI1BP3 Gene

vesicle transport through interaction with t-SNAREs 1B pseudogene 3

IFT74 Gene

intraflagellar transport 74

This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]

TANGO6 Gene

transport and golgi organization 6 homolog (Drosophila)

Predicted to be involved in protein secretion. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

TANGO2 Gene

transport and golgi organization 2 homolog (Drosophila)

This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]

HTL Gene

high L-leucine transport

IFT140 Gene

intraflagellar transport 140

This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]

LOC653712 Gene

intraflagellar transport 122 homolog (Chlamydomonas) pseudogene

IFT27 Gene

intraflagellar transport 27

This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

IFT20 Gene

intraflagellar transport 20

This gene encodes a intraflagellar transport protein important for intracellular transport. The encoded protein forms part of a complex involved in trafficking of proteins from the Golgi body, including recycling of immune signalling components (Finetti et al., PubMed: 19855387). This gene is part of a complex set of sense-antisense loci that may be co-regulated. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 14.[provided by RefSeq, Jun 2012]

IFT22 Gene

intraflagellar transport 22

Predicted to enable GTPase activity. Predicted to be involved in intracellular protein transport. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Mar 2025]

VAT1 Gene

vesicle amine transport 1

Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008]

FXYD6P2 Gene

FXYD domain containing ion transport regulator 6 pseudogene 2

FXYD6P3 Gene

FXYD domain containing ion transport regulator 6 pseudogene 3

Predicted to enable sodium channel regulator activity. Predicted to be involved in positive regulation of sodium ion export across plasma membrane. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

FXYD6P1 Gene

FXYD domain containing ion transport regulator 6 pseudogene 1

NUTF2 Gene

nuclear transport factor 2

This gene encodes a cytosolic factor that facilitates protein transport into the nucleus. The encoded protein is required for nuclear import of the small Ras-like GTPase, Ran which is involved in numerous cellular processes. This protein also interacts with the nuclear pore complex glycoprotein p62. [provided by RefSeq, Apr 2016]

VAT1L Gene

vesicle amine transport 1-like

Predicted to enable oxidoreductase activity and zinc ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

RGP1 Gene

RGP1 retrograde golgi transport homolog (S. cerevisiae)

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in negative regulation of protein catabolic process; positive regulation of GTPase activity; and retrograde transport, endosome to Golgi. Located in cytosol and plasma membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Mar 2025]

CNNM1 Gene

cyclin and CBS domain divalent metal cation transport mediator 1

This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

CNNM3 Gene

cyclin and CBS domain divalent metal cation transport mediator 3

Predicted to enable transmembrane transporter activity. Predicted to be involved in magnesium ion homeostasis. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

CNNM2 Gene

cyclin and CBS domain divalent metal cation transport mediator 2

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

CNNM4 Gene

cyclin and CBS domain divalent metal cation transport mediator 4

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]

TMED11P Gene

transmembrane emp24 protein transport domain containing 11, pseudogene

RTRAF Gene

RNA transcription, translation and transport factor

Enables RNA binding activity; RNA polymerase II complex binding activity; and identical protein binding activity. Involved in negative regulation of protein kinase activity; positive regulation of transcription by RNA polymerase II; and tRNA splicing, via endonucleolytic cleavage and ligation. Located in microtubule cytoskeleton; nucleoplasm; and perinuclear region of cytoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]

CLTRN Gene

collectrin, amino acid transport regulator

This gene encodes a type 1 transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. The encoded protein binds to amino acid transporters and regulates their expression on the plasma membrane. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. The extracellular domain of the encoded protein may be cleaved and shed from the plasma membrane specifically in pancreatic beta cells. [provided by RefSeq, Jun 2013]

IFTAP Gene

intraflagellar transport associated protein

This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

IFT70A Gene

intraflagellar transport 70A

Predicted to enable intraciliary transport particle B binding activity. Predicted to be involved in intraciliary transport. Predicted to be located in centrosome. Predicted to be part of intraciliary transport particle B. Predicted to be active in axonemal microtubule. [provided by Alliance of Genome Resources, Mar 2025]

IFT70B Gene

intraflagellar transport 70B

Predicted to enable intraciliary transport particle B binding activity. Predicted to be involved in intraciliary transport. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Mar 2025]

STRIT1 Gene

small transmembrane regulator of ion transport 1

Predicted to enable enzyme activator activity. Predicted to be involved in regulation of calcium ion transport and regulation of striated muscle contraction. Predicted to act upstream of or within positive regulation of ATPase-coupled calcium transmembrane transporter activity and positive regulation of calcium ion import. Predicted to be located in sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]

LTAP1 Gene

lipid transport auxiliary protein 1

IFT54 Gene

intraflagellar transport 54

The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]

IFT38 Gene

intraflagellar transport 38

The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

MIR181A1HG Gene

MIR181A1 host gene

MIR325HG Gene

MIR325 host gene

MIR4435-2HG Gene

MIR4435-2 host gene

MIR4697HG Gene

MIR4697 host gene

MIR22HG Gene

MIR22 host gene

Predicted to act upstream of or within response to wounding. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

MIR2052HG Gene

MIR2052 host gene

MIR762HG Gene

MIR762 host gene

MIR143HG Gene

MIR143 host gene

Predicted to be involved in regulation of gene expression. Predicted to be part of RISC complex. Biomarker of atherosclerosis. [provided by Alliance of Genome Resources, Mar 2025]

MIR381HG Gene

MIR381 host gene

MIR181A2HG Gene

MIR181A2 host gene

HCFC1R1 Gene

host cell factor C1 regulator 1 (XPO1 dependent)

Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

MIR646HG Gene

MIR646 host gene

MIR202HG Gene

MIR202 host gene

MIRLET7BHG Gene

MIRLET7B host gene

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. Implicated in lung cancer. [provided by Alliance of Genome Resources, Mar 2025]

SNHG5 Gene

small nucleolar RNA host gene 5

This gene represent a snoRNA host gene and produces a long non-coding RNA. This RNA may regulate gene expression by acting as a sponge for microRNAs. This transcript may also stabilize mRNAs by blocking degradation by staufen double-stranded RNA binding protein 1. [provided by RefSeq, Dec 2017]

SNHG4 Gene

small nucleolar RNA host gene 4

SNHG7 Gene

small nucleolar RNA host gene 7

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

SNHG6 Gene

small nucleolar RNA host gene 6

SNHG1 Gene

small nucleolar RNA host gene 1

This locus represents a small nucleolar RNA host gene that produces multiple alternatively spliced long non-coding RNAs. This gene is upregulated in cancers and is thought to act as promoter of cell proliferation. This transcript negatively regulates tumor suppressor genes such as tumor protein p53. Expression of this locus may be a marker of tumor progression. [provided by RefSeq, Dec 2017]

SNHG8 Gene

small nucleolar RNA host gene 8

MIR210HG Gene

MIR210 host gene

MIR217HG Gene

MIR217 host gene

SNHG15 Gene

small nucleolar RNA host gene 15

This gene represents a snoRNA host gene that produces a short-lived long non-coding RNA. This non-coding RNA is upregulated in tumor cells and may contribute to cell proliferation by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]

SNHG14 Gene

small nucleolar RNA host gene 14

This gene is located within the Prader-Willi critical region and produces a long, spliced paternally-imprinted RNA that initiates within a common upstream promoter region shared by the SNRPN (small nuclear ribonucleoprotein polypeptide N) and SNURF genes. This transcript serves as a host RNA for the small nucleolar RNA, C/D box 115 and 116 clusters. This RNA extends in antisense into the region of the ubiquitin protein ligase E3A gene (UBE3A), and is thought to regulate imprinted expression of UBE3A in the brain. This transcript undergoes extensive alternative splicing, and may initiate and terminate at multiple locations within this genomic region. The full-length structure of all splice forms is not determined. [provided by RefSeq, Mar 2017]

SNHG17 Gene

small nucleolar RNA host gene 17

SNHG16 Gene

small nucleolar RNA host gene 16

SNHG11 Gene

small nucleolar RNA host gene 11

This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008]

SNHG12 Gene

small nucleolar RNA host gene 12

This gene produces a long RNA that is overexpressed in tumor cells. This RNA may promote tumorigenesis by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]

SNHG19 Gene

small nucleolar RNA host gene 19

SNHG18 Gene

small nucleolar RNA host gene 18

MIR31HG Gene

MIR31 host gene

This gene produces a long non-coding RNA that acts as a host gene for miR-31. This transcript may be involved in cellular pluripotency and regulate the differentiation of myoblasts and other tissues. This RNA was found to interact with Polycomb repressive proteins to repression transcription of genes involves in cell senescence. [provided by RefSeq, Dec 2017]

SNHG3 Gene

small nucleolar RNA host gene 3

Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

SNHG9 Gene

small nucleolar RNA host gene 9

MIR205HG Gene

MIR205 host gene

Predicted to be involved in several processes, including hormone biosynthetic process; prolactin metabolic process; and regulation of DNA-binding transcription factor activity. [provided by Alliance of Genome Resources, Mar 2025]

MIR137HG Gene

MIR137 host gene

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

MIR4500HG Gene

MIR4500 host gene

MIRLET7DHG Gene

MIRLET7D host gene

MIR155HG Gene

MIR155 host gene

This gene represents a microRNA host gene. The long RNA transcribed from this gene is expressed at high levels in lymphoma and may function as an oncogene. [provided by RefSeq, Dec 2017]

MIR3976HG Gene

MIR3976 host gene

MIR600HG Gene

MIR600 host gene

MIR17HG Gene

miR-17-92 cluster host gene

This gene is the host gene for the MIR17-92 cluster, a group of at least six microRNAs (miRNAs) that may be involved in cell survival, proliferation, differentiation, and angiogenesis. Amplification of this gene has been found in several lymphomas and solid tumors. Two non-protein coding transcript variants have been found for this host gene, but only the longest is a polycistronic transcript containing the MIR17-92 cluster. [provided by RefSeq, May 2012]

MIR1-1HG Gene

MIR1-1 host gene

HCFC2P1 Gene

host cell factor C2 pseudogene 1

MIR99AHG Gene

mir-99a-let-7c cluster host gene

MIR3663HG Gene

MIR3663 host gene

MIR670HG Gene

MIR670 host gene

MIR100HG Gene

mir-100-let-7a-2 cluster host gene

This gene produces long non-coding RNAs that act as regulators of cell proliferation. Alternative promoter usage and splicing results in multiple transcript variants. Some transcript variants may promote growth, while others may act to negatively regulate cell division. [provided by RefSeq, May 2016]

SNHG10 Gene

small nucleolar RNA host gene 10

This gene is small nucleolar RNA host gene 10 and represents a non-protein coding RNA. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]

MIR124-2HG Gene

MIR124-2 host gene

MIR663AHG Gene

MIR663A host gene

MIR4458HG Gene

MIR4458 host gene

MIR7-3HG Gene

MIR7-3 host gene

HCFC2 Gene

host cell factor C2

This gene encodes one of two proteins which interact with VP16, a herpes simplex virus protein that initiates virus infection. Both the encoded protein and the original Herpes host cell factor interact with VP16 through a beta-propeller domain. The original Herpes host cell factor, however, is effective at initiating viral infection while the encoded protein is not. Transcripts of varying length due to alternative polyadenylation signals have been described. [provided by RefSeq, Jul 2008]

HCFC1 Gene

host cell factor C1

This gene is a member of the host cell factor family and encodes a protein with five Kelch repeats, a fibronectin-like motif, and six HCF repeats, each of which contains a highly specific cleavage signal. This nuclear coactivator is proteolytically cleaved at one of the six possible sites, resulting in the creation of an N-terminal chain and the corresponding C-terminal chain. The final form of this protein consists of noncovalently bound N- and C-terminal chains. The protein is involved in control of the cell cycle and transcriptional regulation during herpes simplex virus infection. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

SNHG20 Gene

small nucleolar RNA host gene 20

Predicted to be involved in several processes, including cellular response to fatty acid; macrophage activation; and tyrosine phosphorylation of STAT protein. Implicated in lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

SNHG21 Gene

small nucleolar RNA host gene 21

SNHG22 Gene

small nucleolar RNA host gene 22

SNHG23 Gene

small nucleolar RNA host gene 23

SNHG24 Gene

small nucleolar RNA host gene 24

MIR133A1HG Gene

MIR133A1 host gene (non-protein coding)

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

MIR503HG Gene

MIR503 host gene

MIR497HG Gene

mir-497-195 cluster host gene

MIR222HG Gene

MIR222 host gene

Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

MIR7515HG Gene

MIR7515 host gene

SNHG32 Gene

small nucleolar RNA host gene 32

Predicted to enable double-stranded RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

MIR124-1HG Gene

MIR124-1 host gene

Predicted to act upstream of or within several processes, including long-term synaptic potentiation; miRNA-mediated post-transcriptional gene silencing; and sensory perception of sound. [provided by Alliance of Genome Resources, Mar 2025]

MIR9-1HG Gene

MIR9-1 host gene

Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

MIR34AHG Gene

MIR34A host gene

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. [provided by Alliance of Genome Resources, Mar 2025]

MIR3142HG Gene

MIR3142 host gene

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

MIR3667HG Gene

MIR3667 host gene

MIR9-3HG Gene

MIR9-3 host gene

SNHG25 Gene

small nucleolar RNA host gene 25

MIR194-2HG Gene

MIR194-2 host gene

MIR4453HG Gene

MIR4453 host gene

SNHG28 Gene

small nucleolar RNA host gene 28

Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]

SNHG29 Gene

small nucleolar RNA host gene 29

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

MIR193BHG Gene

MIR193b-365a host gene

MIR3945HG Gene

MIR3945 host gene

SNHG30 Gene

small nucleolar RNA host gene 30

MIR1915HG Gene

MIR1915 host gene

MIR200CHG Gene

MIR200C and MIR141 host gene

MIR4422HG Gene

MIR4422 host gene

MIR29B2CHG Gene

MIR29B2 and MIR29C host gene

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

MIR142HG Gene

MIR142 host genes

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

MIR3936HG Gene

MIR3936 host gene

MIR9-2HG Gene

MIR9-2 host gene

This is an evolutionarily conserved gene that produces alternatively spliced long non-coding RNAs that may be expressed predominantly in the brain and visual cortex. These transcripts may be involved in tumorigenesis, as depletion by siRNA suppressed glioma cell division. Transcripts may also bind to and regulate the activity of miR-411-5p and argonaut 2, thereby altering the expression of genes involved in tumor growth. [provided by RefSeq, Nov 2017]

MIR3677HG Gene

MIR3677 and MIR940 host gene

Predicted to be involved in miRNA-mediated post-transcriptional gene silencing. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]

SNHG26 Gene

small nucleolar RNA host gene 26

MIRLET7IHG Gene

MIRLET7I host gene